A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736456



Internal ID13117439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14833954..14833955hg38UCSC Ensembl
Outerchr19:14833802..14834107hg38UCSC Ensembl
Innerchr19:14944766..14944767hg19UCSC Ensembl
Outerchr19:14944614..14944919hg19UCSC Ensembl
Innerchr19:14805767..14805766hg18UCSC Ensembl
Outerchr19:14805614..14805919hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38306
hg19306
hg18306
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303004
Supporting Variants
SamplesNA12489
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736456
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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